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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
ATP synthase deficiency due to m.8528T>C mutation - A novel cause of severe neonatal hyperammonemia requiring hemodialysis.
J. Pediatr. Endocrinol. Metab. 34, 389-393 (2021)
Hyperammonemia in a newborn is a serious condition, which requires prompt intervention as it can lead to severe neurological impairment and death if left untreated. The most common causes of hyperammonemia in a newborn are acute liver failure and inherited metabolic disorders. Several mitochondrial disorders have been described as a cause of severe neonatal hyperammonemia. Here we describe a new case of adenosine-triphosphate (ATP) synthase deficiency due to m.8528T>C mutation as a novel cause of severe neonatal hyperammonemia. So far six patients with this mutation have been described but none of them was reported to need hemodialysis in the first days of life. This broadens the so far known differential diagnosis of severe neonatal hyperammonemia requiring hemodialysis.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Atp Synthase Deficiency ; Hemodialysis ; Hyperammonemia; Infantile Cardiomyopathy; Mitochondrial
ISSN (print) / ISBN
0334-018X
e-ISSN
2191-0251
Quellenangaben
Band: 34,
Heft: 3,
Seiten: 389-393
Verlag
de Gruyter
Verlagsort
Genthiner Strasse 13, D-10785 Berlin, Germany
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)
Förderungen
(Horizon2020) through the E-Rare project GENOMIT
German Federal Ministry of Education and Research (BMBF)
German Federal Ministry of Education and Research (BMBF)